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Items: 1 to 50 of 685

1.

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Beaudin M, Sellami L, Martel C, Touzel-Deschênes L, Houle G, Martineau L, Lacroix K, Lavallée A, Chrestian N, Rouleau GA, Gros-Louis F, Laforce R Jr, Dupré N.

Neurol Genet. 2020 Feb 20;6(2):e403. doi: 10.1212/NXG.0000000000000403. eCollection 2020 Apr.

2.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Dion PA, Rouleau GA.

Aging (Albany NY). 2020 Mar 23;12. doi: 10.18632/aging.102825. [Epub ahead of print]

3.

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder.

Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Brichant-Petitjean C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Dayer A, Del Zompo M, DePaulo JR, Étain B, Jamain S, Falkai P, Forstner AJ, Frisen L, Frye MA, Fullerton JM, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P, Hofmann A, Jiménez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe JR, Kittel-Schneider S, Kliwicki S, König B, Kusumi I, Laje G, Landén M, Lavebratt C, Leboyer M, Leckband SG, Tortorella A, Manchia M, Martinsson L, McCarthy MJ, McElroy SL, Colom F, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nöthen MM, Novák T, O'Donovan C, Ozaki N, Ösby U, Pfennig A, Potash JB, Reif A; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Maj M, Turecki G, Vieta E, Veeh J, Witt SH, Wright A, Zandi PP, Mitchell PB, Bauer M, Alda M, Rietschel M, McMahon FJ, Schulze TG, Baune BT.

Mol Psychiatry. 2020 Mar 16. doi: 10.1038/s41380-020-0689-5. [Epub ahead of print]

PMID:
32203155
4.

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia.

Sardaar S, Qi B, Dionne-Laporte A, Rouleau GA, Rabbany R, Trakadis YJ.

BMC Psychiatry. 2020 Feb 28;20(1):92. doi: 10.1186/s12888-020-02503-5.

5.

Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data.

Chaumette B, Kebir O, Dion PA, Rouleau GA, Krebs MO.

BMC Res Notes. 2020 Feb 12;13(1):74. doi: 10.1186/s13104-020-4936-2.

6.

Analysis of common and rare VPS13C variants in late-onset Parkinson disease.

Rudakou U, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A, Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, Dupré N, Hassin-Baer S, Alcalay RN, Rouleau GA, Fon EA, Gan-Or Z.

Neurol Genet. 2020 Jan 9;6(1):385. doi: 10.1212/NXG.0000000000000385. eCollection 2020 Feb.

7.

Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.

Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB; 23andMe Research Team, Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA, Gan-Or Z.

Ann Neurol. 2020 Apr;87(4):584-598. doi: 10.1002/ana.25687. Epub 2020 Feb 12.

PMID:
31976583
8.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Estiar MA, Leveille E, Spiegelman D, Dupre N, Trempe JF, Rouleau GA, Gan-Or Z.

Mol Genet Genomic Med. 2020 Mar;8(3):e1052. doi: 10.1002/mgg3.1052. Epub 2020 Jan 15.

9.

The Quebec Parkinson Network: A Researcher-Patient Matching Platform and Multimodal Biorepository.

Gan-Or Z, Rao T, Leveille E, Degroot C, Chouinard S, Cicchetti F, Dagher A, Das S, Desautels A, Drouin-Ouellet J, Durcan T, Gagnon JF, Genge A, Karamchandani J, Lafontaine AL, Sun SLW, Langlois M, Levesque M, Melmed C, Panisset M, Parent M, Poline JB, Postuma RB, Pourcher E, Rouleau GA, Sharp M, Monchi O, Dupré N, Fon EA.

J Parkinsons Dis. 2020;10(1):301-313. doi: 10.3233/JPD-191775.

10.

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Akçimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Gama MTD, Dicaire MJ, Barsottini OG, Brais B, Pedroso JL, Dion PA, Rouleau GA.

Front Genet. 2019 Nov 22;10:1219. doi: 10.3389/fgene.2019.01219. eCollection 2019.

11.

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Sarayloo F, Dionne-Laporte A, Catoire H, Rochefort D, Houle G, Ross JP, Akçimen F, Barros Oliveira R, Turecki G, Dion PA, Rouleau GA.

PLoS One. 2019 Nov 14;14(11):e0225186. doi: 10.1371/journal.pone.0225186. eCollection 2019.

12.

Genetic and epidemiological characterization of restless legs syndrome in Québec.

Akçimen F, Ross JP, Sarayloo F, Liao C, De Barros Oliveira R, Ruskey JA, Bourassa CV, Dion PA, Xiong L, Gan-Or Z, Rouleau GA.

Sleep. 2019 Oct 30. pii: zsz265. doi: 10.1093/sleep/zsz265. [Epub ahead of print]

PMID:
31665514
13.

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN, Gan-Or Z.

Ann Neurol. 2020 Jan;87(1):139-153. doi: 10.1002/ana.25629. Epub 2019 Nov 18.

PMID:
31658403
14.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M.

J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.

PMID:
31617442
15.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

16.

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.

Liao C, Laporte AD, Spiegelman D, Akçimen F, Joober R, Dion PA, Rouleau GA.

Nat Commun. 2019 Oct 1;10(1):4450. doi: 10.1038/s41467-019-12450-9.

17.

MEIS1 and Restless Legs Syndrome: A Comprehensive Review.

Sarayloo F, Dion PA, Rouleau GA.

Front Neurol. 2019 Aug 28;10:935. doi: 10.3389/fneur.2019.00935. eCollection 2019. Review.

18.

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.

Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z.

J Hum Genet. 2019 Nov;64(11):1145-1151. doi: 10.1038/s10038-019-0669-2. Epub 2019 Sep 12.

PMID:
31515523
19.

Genetic architecture and adaptations of Nunavik Inuit.

Zhou S, Xie P, Quoibion A, Ambalavanan A, Dionne-Laporte A, Spiegelman D, Bourassa CV, Xiong L, Dion PA, Rouleau GA.

Proc Natl Acad Sci U S A. 2019 Aug 6;116(32):16012-16017. doi: 10.1073/pnas.1810388116. Epub 2019 Jul 22.

20.

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N.

Cerebellum. 2019 Dec;18(6):1098-1125. doi: 10.1007/s12311-019-01052-2. Review.

21.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

22.

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

Mullins N, Bigdeli TB, Børglum AD, Coleman JRI, Demontis D, Mehta D, Power RA, Ripke S, Stahl EA, Starnawska A, Anjorin A; M.R.C.Psych, Corvin A, Sanders AR, Forstner AJ, Reif A, Koller AC, Świątkowska B, Baune BT, Müller-Myhsok B, Penninx BWJH, Pato C, Zai C, Rujescu D, Hougaard DM, Quested D, Levinson DF, Binder EB, Byrne EM, Agerbo E; Dr.Med.Sc, Streit F, Mayoral F, Bellivier F, Degenhardt F, Breen G, Morken G, Turecki G, Rouleau GA, Grabe HJ, Völzke H, Jones I, Giegling I, Agartz I, Melle I, Lawrence J; M.R.C.Psych, Walters JTR, Strohmaier J, Shi J, Hauser J, Biernacka JM, Vincent JB, Kelsoe J, Strauss JS, Lissowska J, Pimm J; M.R.C.Psych, Smoller JW, Guzman-Parra J, Berger K, Scott LJ, Jones LA, Azevedo MH, Trzaskowski M, Kogevinas M, Rietschel M, Boks M, Ising M, Grigoroiu-Serbanescu M, Hamshere ML, Leboyer M, Frye M, Nöthen MM, Alda M, Preisig M, Nordentoft M, Boehnke M, O'Donovan MC, Owen MJ, Pato MT, Renteria ME, Budde M; Dipl.-Psych, Weissman MM, Wray NR, Bass N; M.R.C.Psych, Craddock N, Smeland OB, Andreassen OA, Mors O, Gejman PV, Sklar P, McGrath P, Hoffmann P, McGuffin P, Lee PH, Mortensen PB, Kahn RS, Ophoff RA, Adolfsson R, Van der Auwera S, Djurovic S, Kloiber S, Heilmann-Heimbach S, Jamain S, Hamilton SP, McElroy SL, Lucae S, Cichon S, Schulze TG, Hansen T, Werge T, Air TM, Nimgaonkar V, Appadurai V, Cahn W, Milaneschi Y; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Fanous AH, Kendler KS, McQuillin A, Lewis CM.

Am J Psychiatry. 2019 Aug 1;176(8):651-660. doi: 10.1176/appi.ajp.2019.18080957. Epub 2019 Jun 5.

PMID:
31164008
23.

Genome-wide estimates of heritability and genetic correlations in essential tremor.

Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P.

Parkinsonism Relat Disord. 2019 Jul;64:262-267. doi: 10.1016/j.parkreldis.2019.05.002. Epub 2019 May 4.

PMID:
31085086
24.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Gama MTD, Braga-Neto P, Dutra LA, Alessi H, Maria LA, Gadelha AA, Ortiz BB, Kunii I, Correia-Silva SR, Dias da Silva MR, Dion PA, Rouleau GA, França MC Jr, Barsottini OGP, Pedroso JL.

Cerebellum. 2019 Aug;18(4):731-737. doi: 10.1007/s12311-019-01033-5.

PMID:
31049853
25.

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koller AC, Kupka R, Lavebratt C, Lawrence J, Lawson WB, Leber M, Lee PH, Levy SE, Li JZ, Liu C, Lucae S, Maaser A, MacIntyre DJ, Mahon PB, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis MG, McKay JD, Medeiros H, Medland SE, Meng F, Milani L, Montgomery GW, Morris DW, Mühleisen TW, Mullins N, Nguyen H, Nievergelt CM, Adolfsson AN, Nwulia EA, O'Donovan C, Loohuis LMO, Ori APS, Oruc L, Ösby U, Perlis RH, Perry A, Pfennig A, Potash JB, Purcell SM, Regeer EJ, Reif A, Reinbold CS, Rice JP, Rivas F, Rivera M, Roussos P, Ruderfer DM, Ryu E, Sánchez-Mora C, Schatzberg AF, Scheftner WA, Schork NJ, Shannon Weickert C, Shehktman T, Shilling PD, Sigurdsson E, Slaney C, Smeland OB, Sobell JL, Søholm Hansen C, Spijker AT, St Clair D, Steffens M, Strauss JS, Streit F, Strohmaier J, Szelinger S, Thompson RC, Thorgeirsson TE, Treutlein J, Vedder H, Wang W, Watson SJ, Weickert TW, Witt SH, Xi S, Xu W, Young AH, Zandi P, Zhang P, Zöllner S; eQTLGen Consortium; BIOS Consortium, Adolfsson R, Agartz I, Alda M, Backlund L, Baune BT, Bellivier F, Berrettini WH, Biernacka JM, Blackwood DHR, Boehnke M, Børglum AD, Corvin A, Craddock N, Daly MJ, Dannlowski U, Esko T, Etain B, Frye M, Fullerton JM, Gershon ES, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard DM, Hultman CM, Jones I, Jones LA, Kahn RS, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Martin NG, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Metspalu A, Mitchell PB, Morken G, Mors O, Mortensen PB, Müller-Myhsok B, Myers RM, Neale BM, Nimgaonkar V, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Owen MJ, Paciga SA, Pato C, Pato MT, Posthuma D, Ramos-Quiroga JA, Ribasés M, Rietschel M, Rouleau GA, Schalling M, Schofield PR, Schulze TG, Serretti A, Smoller JW, Stefansson H, Stefansson K, Stordal E, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Werge T, Nurnberger JI, Wray NR, Di Florio A, Edenberg HJ, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium.

Nat Genet. 2019 May;51(5):793-803. doi: 10.1038/s41588-019-0397-8. Epub 2019 May 1.

26.

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues.

Ross JP, Leblond CS, Catoire H, Volkening K, Strong M, Zinman L, Robertson J, Dion PA, Rouleau GA.

Neurol Genet. 2019 Mar 19;5(2):e317. doi: 10.1212/NXG.0000000000000317. eCollection 2019 Apr.

27.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N.

Hum Genomics. 2019 Apr 16;13(1):19. doi: 10.1186/s40246-019-0203-9.

28.

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau GA, Brown RH Jr, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB.

Genome Res. 2019 May;29(5):809-818. doi: 10.1101/gr.243592.118. Epub 2019 Apr 2.

29.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

30.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M.

Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.

PMID:
30924036
31.

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

Abu-Baker A, Kharma N, Perreault J, Grant A, Shekarabi M, Maios C, Dona M, Neri C, Dion PA, Parker A, Varin L, Rouleau GA.

Mol Ther Nucleic Acids. 2019 Apr 15;15:12-25. doi: 10.1016/j.omtn.2019.02.003. Epub 2019 Feb 15.

32.

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z.

Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20.

33.

Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA.

Neurol Genet. 2018 Dec 20;4(6):e296. doi: 10.1212/NXG.0000000000000296. eCollection 2018 Dec.

34.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.

Eur J Med Genet. 2019 Dec;62(12):103605. doi: 10.1016/j.ejmg.2018.12.010. Epub 2018 Dec 17.

PMID:
30572172
35.

Whole exome sequencing identifies novel predisposing genes in neural tube defects.

Lemay P, De Marco P, Traverso M, Merello E, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, Audibert F, Michaud JL, Cama A, Rouleau GA, Kibar Z, Capra V.

Mol Genet Genomic Med. 2019 Jan;7(1):e00467. doi: 10.1002/mgg3.467. Epub 2018 Nov 10.

36.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z.

Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31.

37.

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):335-340. doi: 10.1002/ajmg.b.32683. Epub 2018 Oct 30.

PMID:
30378261
38.

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA.

Parkinsonism Relat Disord. 2019 Apr;61:238-240. doi: 10.1016/j.parkreldis.2018.10.022. Epub 2018 Oct 19. No abstract available.

PMID:
30366831
39.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mol Neurobiol. 2019 Jun;56(6):4317-4321. doi: 10.1007/s12035-018-1369-1. Epub 2018 Oct 12.

PMID:
30315477
40.

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.

Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, Xiong L, Montplaisir J, Earley CJ, Turecki G, Dion PA, Rouleau GA.

Sci Rep. 2018 Aug 15;8(1):12173. doi: 10.1038/s41598-018-30665-6.

41.

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z.

Neurobiol Aging. 2018 Dec;72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2.

42.

Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.

Kalman JL, Papiol S, Forstner AJ, Heilbronner U, Degenhardt F, Strohmaier J, Adli M, Adorjan K, Akula N, Alda M, Anderson-Schmidt H, Andlauer TF, Anghelescu IG, Ardau R, Arias B, Arolt V, Aubry JM, Backlund L, Bartholdi K, Bauer M, Baune BT, Becker T, Bellivier F, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, Brichant-Petitjean C, Budde M, Cervantes P, Chillotti C, Cichon S, Clark SR, Colom F, Comes AL, Cruceanu C, Czerski PM, Dannlowski U, Dayer A, Del Zompo M, DePaulo JR, Dietrich DE, Étain B, Ethofer T, Falkai P, Fallgatter A, Figge C, Flatau L, Folkerts H, Frisen L, Frye MA, Fullerton JM, Gade K, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Gryaznova A, Hake M, Hauser J, Herms S, Hoffmann P, Hou L, Jäger M, Jamain S, Jiménez E, Juckel G, Kahn JP, Kassem L, Kelsoe J, Kittel-Schneider S, Kliwicki S, Klohn-Sagatholislam F, Koller M, König B, Konrad C, Lackner N, Laje G, Landén M, Lang FU, Lavebratt C, Leboyer M, Leckband SG, Maj M, Manchia M, Martinsson L, McCarthy MJ, McElroy SL, McMahon FJ, Mitchell PB, Mitjans M, Mondimore FM, Monteleone P, Nieratschker V, Nievergelt CM, Novák T, Ösby U, Pfennig A, Potash JB, Reich-Erkelenz D, Reif A, Reimer J, Reininghaus E, Reitt M, Ripke S, Rouleau GA, Rybakowski JK, Schalling M, Scherk H, Schmauß M, Schofield PR, Schubert KO, Schulte EC, Schulz S, Senner F, Severino G, Shekhtman T, Shilling PD, Simhandl C, Slaney CM, Spitzer C, Squassina A, Stamm T, Stegmaier S, Stierl S, Stopkova P, Thiel A, Tighe SK, Tortorella A, Turecki G, Vieta E, Veeh J, von Hagen M, Wigand ME, Wiltfang J, Witt S, Wright A, Zandi PP, Zimmermann J, Nöthen M, Rietschel M, Schulze TG.

Bipolar Disord. 2019 Feb;21(1):68-75. doi: 10.1111/bdi.12659. Epub 2018 Jun 28.

43.

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Soler J, Fañanás L, Parellada M, Krebs MO, Rouleau GA, Fatjó-Vilas M.

J Psychiatry Neurosci. 2018 Jul;43(4):223-244.

44.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, 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Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

45.

Analysis of the Influence of microRNAs in Lithium Response in Bipolar Disorder.

Reinbold CS, Forstner AJ, Hecker J, Fullerton JM, Hoffmann P, Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, Marie-Claire C, Cervantes P, Chen GB, Chen HC, Chillotti C, Clark SR, Colom F, Cousins DA, Cruceanu C, Czerski PM, Dayer A, Étain B, Falkai P, Frisén L, Gard S, Garnham JS, Goes FS, Grof P, Gruber O, Hashimoto R, Hauser J, Herms S, Jamain S, Jiménez E, Kahn JP, Kassem L, Kittel-Schneider S, Kliwicki S, König B, Kusumi I, Lackner N, Laje G, Landén M, Lavebratt C, Leboyer M, Leckband SG, López Jaramillo CA, MacQueen G, Manchia M, Martinsson L, Mattheisen M, McCarthy MJ, McElroy SL, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Ösby U, Ozaki N, Perlis RH, Pfennig A, Reich-Erkelenz D, Rouleau GA, Schofield PR, Schubert KO, Schweizer BW, Seemüller F, Severino G, Shekhtman T, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Smoller JW, Squassina A, Stamm TJ, Stopkova P, Tighe SK, Tortorella A, Turecki G, Volkert J, Witt SH, Wright AJ, Young LT, Zandi PP, Potash JB, DePaulo JR, Bauer M, Reininghaus E, Novák T, Aubry JM, Maj M, Baune BT, Mitchell PB, Vieta E, Frye MA, Rybakowski JK, Kuo PH, Kato T, Grigoroiu-Serbanescu M, Reif A, Del Zompo M, Bellivier F, Schalling M, Wray NR, Kelsoe JR, Alda M, McMahon FJ, Schulze TG, Rietschel M, Nöthen MM, Cichon S.

Front Psychiatry. 2018 May 31;9:207. doi: 10.3389/fpsyt.2018.00207. eCollection 2018.

46.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA.

Mol Psychiatry. 2018 Jun 12. doi: 10.1038/s41380-018-0103-8. [Epub ahead of print]

47.

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.

Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT.

Hum Genome Var. 2018 Mar 8;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018.

48.

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Soler J, Fañanás L, Parellada M, Krebs MO, Rouleau GA, Fatjó-Vilas M.

J Psychiatry Neurosci. 2018 May 28;43(4):170066. doi: 10.1503/jpn.170066. [Epub ahead of print]

49.

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.

Gama MTD, Piccinin CC, Rezende TJR, Dion PA, Rouleau GA, França Junior MC, Barsottini OGP, Pedroso JL.

J Neurol Sci. 2018 Jul 15;390:227-230. doi: 10.1016/j.jns.2018.05.003. Epub 2018 May 4.

PMID:
29801895
50.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.

Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA, Gan-Or Z.

Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14.

PMID:
29756641

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